ClinVar Miner

List of variants in gene KDM5C studied for X-linked disease

Included ClinVar conditions (313):
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Total variants: 34
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HGVS dbSNP
NM_001146702.1(KDM5C):c.4047-1C>T rs1602156447
NM_004187.4(KDM5C):c.1747G>T (p.Val583Phe) rs1602183890
NM_004187.4(KDM5C):c.2622+2dup rs1057519393
NM_004187.5(KDM5C):c.100del (p.Ile34fs)
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro) rs199422235
NM_004187.5(KDM5C):c.1353C>G (p.Ser451Arg) rs199422237
NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser)
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.156G>T (p.Trp52Cys) rs886037836
NM_004187.5(KDM5C):c.1613C>T (p.Pro538Leu) rs587780372
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr) rs387906729
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys) rs1556842184
NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys) rs1602183619
NM_004187.5(KDM5C):c.202dup (p.Arg68fs) rs782600511
NM_004187.5(KDM5C):c.2080C>T (p.Arg694Ter) rs199422236
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His) rs1569264240
NM_004187.5(KDM5C):c.2172C>A (p.Cys724Ter) rs281860639
NM_004187.5(KDM5C):c.2191C>T (p.Leu731Phe) rs199422234
NM_004187.5(KDM5C):c.2243+1G>T
NM_004187.5(KDM5C):c.2296C>T (p.Arg766Trp) rs199422238
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr) rs199422239
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter) rs1602231587
NM_004187.5(KDM5C):c.3118C>T (p.Gln1040Ter) rs782246658
NM_004187.5(KDM5C):c.3442G>A (p.Val1148Met) rs782205045
NM_004187.5(KDM5C):c.3517A>T (p.Ser1173Cys) rs1602162404
NM_004187.5(KDM5C):c.3570_3573del (p.Gly1191fs)
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs) rs1131692227
NM_004187.5(KDM5C):c.470A>G (p.Tyr157Cys) rs1556852793
NM_004187.5(KDM5C):c.589dup (p.Leu197fs) rs1602228596
NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln)
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter) rs1556852362
NM_004187.5(KDM5C):c.767_768CT[1] (p.Leu257fs) rs1060499661
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313

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